Pesquisa | BVS Violência e Saúde

1.

Contractile properties and magnetic resonance imaging-assessed fat replacement of muscles in myotonia congenita.

Jacobsen, Laura Nørager; Stemmerik, Mads Godtfeldt; Skriver, Sofie Vinther; Pedersen, Jonas Jalili; Løkken, Nicoline; Vissing, John.

Eur J Neurol ; 31(4): e16207, 2024 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-38270354

2.

Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.

Landim, João Igor Dantas; Ribeiro, Ian Silva; Oliveira, Eduardo Braga; Freitas, Hermany Capistrano; Brito, Lara Albuquerque; Maia, Isaac Holanda Mendes; Távora, Daniel Gurgel Fernandes; Rodrigues, Cleonisio Leite.

BMC Neurol ; 23(1): 171, 2023 Apr 27.

Artigo em Inglês | MEDLINE | ID: mdl-37106355

3.

Non-dystrophic myotonia: 2-year clinical and patient reported outcomes.

Fullam, Timothy R; Chandrashekhar, Swathy; Farmakidis, Constantine; Jawdat, Omar; Pasnoor, Mamatha; Dimachkie, Mazen M; Statland, Jeffrey M.

Muscle Nerve ; 66(2): 148-158, 2022 08.

Artigo em Inglês | MEDLINE | ID: mdl-35644941

4.

[On the Conceptual History of Myotonia Congenita: The Contributions of Julius Thomsen and Adolph Seeligmüller]. / Zur Konzeptgeschichte der Myotonia congenita: Die Beiträge von Julius Thomsen und Adolph Seeligmüller.

Arendt, Carolin; Zierz, Stephan.

Fortschr Neurol Psychiatr ; 90(9): 406-415, 2022 Sep.

Artigo em Alemão | MEDLINE | ID: mdl-34448176

5.

[Rhabdomyolysis - the chamaeleon of the intensive care unit]. / Rhabdomyolyse das Chamäleon auf der Intensivstation.

Gaik, Christine; Arndt, Christian.

Anasthesiol Intensivmed Notfallmed Schmerzther ; 57(7-08): 502-507, 2022 Jul.

Artigo em Alemão | MEDLINE | ID: mdl-35896388

6.

Value of short exercise and short exercise with cooling tests in diagnosis of recessive form of myotonia congenita (Becker disease) - are sex differences important?

Nojszewska, Monika; Lusakowska, Anna; Gawel, Malgorzata; Sierdzinski, Janusz; Sulek, Anna; Krysa, Wioletta; Elert-Dobkowska, Ewelina; Seroka, Andrzej; Kaminska, Anna M; Kostera-Pruszczyk, Anna.

Neurol Neurochir Pol ; 56(5): 399-403, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-35792560

7.

Making sense of missense variants in TTN-related congenital myopathies.

Rees, Martin; Nikoopour, Roksana; Fukuzawa, Atsushi; Kho, Ay Lin; Fernandez-Garcia, Miguel A; Wraige, Elizabeth; Bodi, Istvan; Deshpande, Charu; Özdemir, Özkan; Daimagüler, Hülya-Sevcan; Pfuhl, Mark; Holt, Mark; Brandmeier, Birgit; Grover, Sarah; Fluss, Joël; Longman, Cheryl; Farrugia, Maria Elena; Matthews, Emma; Hanna, Michael; Muntoni, Francesco; Sarkozy, Anna; Phadke, Rahul; Quinlivan, Ros; Oates, Emily C; Schröder, Rolf; Thiel, Christian; Reimann, Jens; Voermans, Nicol; Erasmus, Corrie; Kamsteeg, Erik-Jan; Konersman, Chaminda; Grosmann, Carla; McKee, Shane; Tirupathi, Sandya; Moore, Steven A; Wilichowski, Ekkehard; Hobbiebrunken, Elke; Dekomien, Gabriele; Richard, Isabelle; Van den Bergh, Peter; Domínguez-González, Cristina; Cirak, Sebahattin; Ferreiro, Ana; Jungbluth, Heinz; Gautel, Mathias.

Acta Neuropathol ; 141(3): 431-453, 2021 03.

Artigo em Inglês | MEDLINE | ID: mdl-33449170

8.

Diagnostic yield of muscle biopsy in infants: Retrospective analysis of clinical and histopathologic findings.

Maras Genç, Hülya; Güven, Alev; Talim, Beril.

Clin Neuropathol ; 40(5): 286-291, 2021.

Artigo em Inglês | MEDLINE | ID: mdl-33860760

9.

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report.

Sparber, Peter; Sharova, Margarita; Filatova, Alexandra; Shchagina, Olga; Ivanova, Evgeniya; Dadali, Elena; Skoblov, Mikhail.

BMC Med Genet ; 21(Suppl 1): 197, 2020 10 22.

Artigo em Inglês | MEDLINE | ID: mdl-33092578

10.

Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.

Masingue, Marion; Arzel, Marianne; Sternberg, Damien; Stojkovic, Tanya; Behin, Anthony; Bassez, Guillaume; Vicart, Savine; Péréon, Yann; Magot, Armelle; Kuntzer, Thierry; Eymard, Bruno; Fournier, Emmanuel.

Muscle Nerve ; 61(4): 491-495, 2020 04.

Artigo em Inglês | MEDLINE | ID: mdl-31944327

11.

Brody disease: when myotonia is not myotonia.

Braz, Luís; Soares-Dos-Reis, Ricardo; Seabra, Mafalda; Silveira, Fernando; Guimarães, Joana.

Pract Neurol ; 19(5): 417-419, 2019 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-30996034

12.

A Boy with Herculean Appearance.

Wright, Sarah; Ghosh, Partha S.

J Pediatr ; 244: 245-246, 2022 05.

Artigo em Inglês | MEDLINE | ID: mdl-34953819

13.

Prenatal diagnosis of congenital myopathies and muscular dystrophies.

Massalska, D; Zimowski, J G; Bijok, J; Kucinska-Chahwan, A; Lusakowska, A; Jakiel, G; Roszkowski, T.

Clin Genet ; 90(3): 199-210, 2016 09.

Artigo em Inglês | MEDLINE | ID: mdl-27197572

14.

Dual hereditary and immune-mediated neuromuscular diagnoses after cancer immunotherapy.

Jiwa, Nadim S; Lawrence, Donald P; Guidon, Amanda C.

Muscle Nerve ; 63(3): E21-E24, 2021 03.

Artigo em Inglês | MEDLINE | ID: mdl-33314145

15.

Myotonia in ion channel diseases of muscle.

Partanen, Juhani; Isohanni, Pirjo; Auranen, Mari.

Duodecim ; 132(19): 1810-4, 2016.

Artigo em Inglês | MEDLINE | ID: mdl-29188980

16.

Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.

Richardson, Randal C; Tarleton, Jack C; Bird, Thomas D; Gospe, Sidney M.

Muscle Nerve ; 49(4): 593-600, 2014 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-23893571

17.

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.

Guglielmi, Valeria; Vattemi, Gaetano; Gualandi, Francesca; Voermans, Nicol C; Marini, Matteo; Scotton, Chiara; Pegoraro, Elena; Oosterhof, Arie; Kósa, Magdolna; Zádor, Erno; Valente, Enza Maria; De Grandis, Domenico; Neri, Marcella; Codemo, Valentina; Novelli, Antonio; van Kuppevelt, Toin H; Dallapiccola, Bruno; van Engelen, Baziel G; Ferlini, Alessandra; Tomelleri, Giuliano.

Mol Genet Metab ; 110(1-2): 162-9, 2013.

Artigo em Inglês | MEDLINE | ID: mdl-23911890

18.

[Congenital myotonia. Incidence and presentation of a series of cases]. / Miotonía congénita. Incidencia y presentación de una serie de casos.

Martos-Lirio, M F; Calvo-Medina, R; Ruiz-García, C; Ramos-Fernández, J M.

Rev Neurol ; 76(4): 147-150, 2023 02 16.

Artigo em Espanhol | MEDLINE | ID: mdl-36782350

19.

A complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog.

Chimenes, Natielly D; Caramalac, Silvana M; Caramalac, Simone M; Fernandes, Thiago D; Basso, Roberta M; Cerri, Fabrício M; Oliveira-Filho, José P; Borges, Alexandre S; Palumbo, Mariana I P.

J Vet Diagn Invest ; 35(4): 413-416, 2023 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-37212506

20.

[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita].

Chen, Zhi-ting; He, Jin; Chen, Wan-jin; Chen, Sheng-gen; Lin, Ji-lan; Ye, Qin-yong; Huang, Hua-pin.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 29(6): 690-2, 2012 Dec.

Artigo em Zh | MEDLINE | ID: mdl-23225051

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